AMME syndrome candidate gene 1 protein (AMMECR1)

Structure

contains 1 AMMECR1 domain

Alternative splicing

named isoforms=3

Pathology

• defects in AMMECR1 are involved in Alport syndrome with mental retardation midface hypoplasia & elliptocytosis

More general terms

• other protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9949
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:9949
• OMIM: https://mirror.omim.org/entry/300194
• OMIM: https://mirror.omim.org/entry/300195
• UniProt: http://www.uniprot.org/uniprot/Q9Y4X0.html